title: [An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies].
abstract: The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2 deletion.
authors.affiliation: Servicio de Endocrinología Pediátrica, Hospital Infantil La Paz, Madrid, Spain. jguerrerof@yahoo.es
authors.forename: J
authors.initials: J
authors.lastname: Guerrero Fernández
authors.forename: C
authors.initials: C
authors.lastname: Labrandero de Lera
authors.forename: I
authors.initials: I
authors.lastname: González Casado
authors.forename: R
authors.initials: R
authors.lastname: Gracia Bouthelier
mesh_terms: D000293:Adolescent; D004062:DiGeorge Syndrome / Q000150:complications*; D004700:Endocrine System Diseases / Q000209:etiology*; D005260:Female; D006801:Humans; D010641:Phenotype